Analysis using whole genome sequencing gives more accuracy


A new study from IGP shows that whole genome sequencing contributes to increasing the accuracy in genetic studies, which in turn can improve the understanding of how biomarkers can be used to discover diseases. The results are published in the scientific journal Scientific Reports.

Biomarkers, which for instance can be specific proteins that circulate in the blood, are often used in the clinic as indicators of a biological process linked to a disease. Proteins in our bodies are not only affected by the disease course but also by our environment and lifestyle, as well as by the genetic traits that we carry. Proteins best suited for diagnosis should preferably not be influenced too much by our DNA, since this can result in difficulties making a good disease diagnosis.

In this study, the researchers have focused on protein biomarkers that increase or decrease during inflammation, in around one thousand people in a Swedish health study. In contrast to previous studies where a selection of all positions in the genome have been studied, the researchers have used a new technology for their analysis where all genetic positions in a person are examined. This is called whole-genome sequencing. By examining more than three billion positions in the genome, the researchers could identify 18 new genes that influence the level of the biomarkers in the blood. This can help us understand how biomarkers are regulated during disease, e.g. in Crohn’s disease and rheumatism.

The study shows that more inflammatory biomarkers are influenced by our genes than previously known, but also that many biomarkers seem to be directly associated with the risk of developing an inflammatory disease.

“We saw for example that people with increased levels of several inflammatory biomarkers also had an increased risk for inflammatory bowel disease (IBD),” says Julia Höglund, PhD student at IGP and one of the leading researchers behind the study.

Information from this study can contribute to an increased understanding of how our genes affect the risk for common diseases but also how biomarkers in the future, in a more reliable way, can be used to diagnose different diseases.

More information:
Article in Scientific Reports
Julia Höglund’s research in Åsa Johansson’s grupp